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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 2-99162272-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=99162272&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 99162272,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_015929.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPT1",
"gene_hgnc_id": 29569,
"hgvs_c": "c.315A>G",
"hgvs_p": "p.Thr105Thr",
"transcript": "NM_145199.3",
"protein_id": "NP_660200.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 373,
"cds_start": 315,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000651691.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145199.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPT1",
"gene_hgnc_id": 29569,
"hgvs_c": "c.315A>G",
"hgvs_p": "p.Thr105Thr",
"transcript": "ENST00000651691.1",
"protein_id": "ENSP00000498546.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 373,
"cds_start": 315,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_145199.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651691.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPT1",
"gene_hgnc_id": 29569,
"hgvs_c": "c.315A>G",
"hgvs_p": "p.Thr105Thr",
"transcript": "ENST00000393473.6",
"protein_id": "ENSP00000377115.2",
"transcript_support_level": 1,
"aa_start": 105,
"aa_end": null,
"aa_length": 373,
"cds_start": 315,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393473.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000273155",
"gene_hgnc_id": null,
"hgvs_c": "c.-28+5846A>G",
"hgvs_p": null,
"transcript": "ENST00000410042.1",
"protein_id": "ENSP00000387111.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 131,
"cds_start": null,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410042.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000241962",
"gene_hgnc_id": null,
"hgvs_c": "n.63+11753A>G",
"hgvs_p": null,
"transcript": "ENST00000424491.5",
"protein_id": "ENSP00000390891.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000424491.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPT1",
"gene_hgnc_id": 29569,
"hgvs_c": "c.315A>G",
"hgvs_p": "p.Thr105Thr",
"transcript": "NM_001204830.2",
"protein_id": "NP_001191759.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 373,
"cds_start": 315,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204830.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPT1",
"gene_hgnc_id": 29569,
"hgvs_c": "c.315A>G",
"hgvs_p": "p.Thr105Thr",
"transcript": "NM_015929.4",
"protein_id": "NP_057013.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 373,
"cds_start": 315,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015929.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPT1",
"gene_hgnc_id": 29569,
"hgvs_c": "c.315A>G",
"hgvs_p": "p.Thr105Thr",
"transcript": "NM_145197.3",
"protein_id": "NP_660198.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 373,
"cds_start": 315,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145197.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPT1",
"gene_hgnc_id": 29569,
"hgvs_c": "c.315A>G",
"hgvs_p": "p.Thr105Thr",
"transcript": "NM_145198.3",
"protein_id": "NP_660199.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 373,
"cds_start": 315,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145198.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPT1",
"gene_hgnc_id": 29569,
"hgvs_c": "c.315A>G",
"hgvs_p": "p.Thr105Thr",
"transcript": "ENST00000393471.2",
"protein_id": "ENSP00000377114.2",
"transcript_support_level": 2,
"aa_start": 105,
"aa_end": null,
"aa_length": 373,
"cds_start": 315,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393471.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPT1",
"gene_hgnc_id": 29569,
"hgvs_c": "c.315A>G",
"hgvs_p": "p.Thr105Thr",
"transcript": "ENST00000909186.1",
"protein_id": "ENSP00000579245.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 373,
"cds_start": 315,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909186.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPT1",
"gene_hgnc_id": 29569,
"hgvs_c": "c.315A>G",
"hgvs_p": "p.Thr105Thr",
"transcript": "ENST00000909187.1",
"protein_id": "ENSP00000579246.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 373,
"cds_start": 315,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909187.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPT1",
"gene_hgnc_id": 29569,
"hgvs_c": "c.315A>G",
"hgvs_p": "p.Thr105Thr",
"transcript": "ENST00000909188.1",
"protein_id": "ENSP00000579247.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 373,
"cds_start": 315,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909188.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPT1",
"gene_hgnc_id": 29569,
"hgvs_c": "c.315A>G",
"hgvs_p": "p.Thr105Thr",
"transcript": "ENST00000909189.1",
"protein_id": "ENSP00000579248.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 373,
"cds_start": 315,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909189.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPT1",
"gene_hgnc_id": 29569,
"hgvs_c": "c.315A>G",
"hgvs_p": "p.Thr105Thr",
"transcript": "ENST00000909190.1",
"protein_id": "ENSP00000579249.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 373,
"cds_start": 315,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909190.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPT1",
"gene_hgnc_id": 29569,
"hgvs_c": "c.315A>G",
"hgvs_p": "p.Thr105Thr",
"transcript": "ENST00000909191.1",
"protein_id": "ENSP00000579250.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 373,
"cds_start": 315,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909191.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPT1",
"gene_hgnc_id": 29569,
"hgvs_c": "c.315A>G",
"hgvs_p": "p.Thr105Thr",
"transcript": "ENST00000909192.1",
"protein_id": "ENSP00000579251.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 373,
"cds_start": 315,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909192.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPT1",
"gene_hgnc_id": 29569,
"hgvs_c": "c.315A>G",
"hgvs_p": "p.Thr105Thr",
"transcript": "ENST00000909193.1",
"protein_id": "ENSP00000579252.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 373,
"cds_start": 315,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909193.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPT1",
"gene_hgnc_id": 29569,
"hgvs_c": "c.315A>G",
"hgvs_p": "p.Thr105Thr",
"transcript": "ENST00000909194.1",
"protein_id": "ENSP00000579253.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 373,
"cds_start": 315,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909194.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPT1",
"gene_hgnc_id": 29569,
"hgvs_c": "c.315A>G",
"hgvs_p": "p.Thr105Thr",
"transcript": "ENST00000909195.1",
"protein_id": "ENSP00000579254.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 373,
"cds_start": 315,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909195.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPT1",
"gene_hgnc_id": 29569,
"hgvs_c": "c.315A>G",
"hgvs_p": "p.Thr105Thr",
"transcript": "ENST00000909196.1",
"protein_id": "ENSP00000579255.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 373,
"cds_start": 315,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909196.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPT1",
"gene_hgnc_id": 29569,
"hgvs_c": "c.315A>G",
"hgvs_p": "p.Thr105Thr",
"transcript": "ENST00000909197.1",
"protein_id": "ENSP00000579256.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 373,
"cds_start": 315,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909197.1"
},
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"score": -20,
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"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000487588.5",
"gene_symbol": "MITD1",
"hgnc_id": 25207,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.241-604T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}